American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES

November 2012

Volume 158A, Issue 11

Pages C1–C1, fm i–fm vi, ix–xii, 2645–2980

  1. Cover Image

    1. Top of page
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    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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  4. Invited Comment

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Special section. Syndrome-specific growth charts (pages 2645–2646)

      Judith G. Hall, Judith E. Allanson, Karen W. Gripp and Anne M. Slavotinek

      Article first published online: 4 OCT 2012 | DOI: 10.1002/ajmg.a.35704

  5. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age (pages 2647–2655)

      Hanan H. Afifi, Mona S. Aglan, Moushira E. Zaki, Manal M. Thomas and Angie M.S. Tosson

      Article first published online: 18 JUL 2012 | DOI: 10.1002/ajmg.a.35468

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Growth charts of Turkish children with Down syndrome (pages 2656–2664)

      Beyhan Tüysüz, Nilüfer Topal Göknar and Birol Öztürk

      Article first published online: 5 OCT 2012 | DOI: 10.1002/ajmg.a.35710

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      Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children (pages 2665–2671)

      Alex Habel, Michael-John McGinn II, Elaine H. Zackai, Nancy Unanue and Donna M. McDonald-McGinn

      Article first published online: 18 JUN 2012 | DOI: 10.1002/ajmg.a.35426

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      Growth charts for 22q11 deletion syndrome (pages 2672–2681)

      Daniel C. Tarquinio, Marilyn C. Jones, Kenneth Lyons Jones and Lynne M. Bird

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35485

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      Growth in Chilean infants with chromosome 22q11 microdeletion syndrome (pages 2682–2686)

      Maria Luisa Guzman, Iris Delgado, Guillermo Lay-Son, Edward Willans, Alonso Puga and Gabriela M. Repetto

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35525

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Growth curves of Egyptian patients with Turner syndrome (pages 2687–2691)

      Hala T. El-Bassyouni, Hanan H. Afifi, Mona S. Aglan, Wael M. Mahmoud and Moushira E. Zaki

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35518

  8. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Normative growth charts for individuals with Costello syndrome (pages 2692–2699)

      Mary R. Sammon, Dan Doyle, Elizabeth Hopkins, Katia Sol-Church, Deborah L. Stabley, John McGready, Kerry Schulze, Yewande Alade, Julie Hoover-Fong and Karen W. Gripp

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35534

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      Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway (pages 2700–2706)

      Alexsandra C. Malaquias, Amanda S. Brasil, Alexandre C. Pereira, Ivo J.P. Arnhold, Berenice B. Mendonca, Debora R. Bertola and Alexander A.L. Jorge

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35519

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      Growth charts for individuals with Smith–Lemli–Opitz syndrome (pages 2707–2713)

      Ryan W.Y. Lee, John McGready, Sandra K. Conley, Nicole M. Yanjanin, Małgorzata J.M. Nowaczyk and Forbes D. Porter

      Article first published online: 21 MAY 2012 | DOI: 10.1002/ajmg.a.35376

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      Anthropometric measurements in Egyptian patients with osteogenesis imperfecta (pages 2714–2718)

      Mona S. Aglan, Moushira E. Zaki, Laila Hosny, Rasha El-Houssini, Ghada Oteify and Samia A. Temtamy

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35529

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      Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations (pages 2719–2725)

      Michael B. Bober, Tim Niiler, Angela L. Duker, Jennie E. Murray, Tara Ketterer, Margaret E. Harley, Sabah Alvi, Christina Flora, Cecilie Rustad, Ernie M.H.F. Bongers, Louise S. Bicknell, Carol Wise and Andrew P. Jackson

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35447

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      The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study (pages 2726–2732)

      Amy E. Roberts, Connie Nixon, Colin G. Steward, Kimberly Gauvreau, Melissa Maisenbacher, Matthew Fletcher, Judith Geva, Barry J. Byrne and Carolyn T. Spencer

      Article first published online: 8 OCT 2012 | DOI: 10.1002/ajmg.a.35609

  9. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder (pages 2733–2742)

      Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al-Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton-Smith, Cheri L. Deal, Alaa Y. Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. Hennekam, Maaike C.E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, Willie Reardon, Alison Ross, Pierre Sarda, Constance T.R.M. Schrander-Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David L. Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine V.A.M. Knoers, Han G. Brunner, Andrew P. Jackson and Ernie M.H.F. Bongers

      Article first published online: 28 SEP 2012 | DOI: 10.1002/ajmg.a.35681

  10. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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  11. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome? (pages 2750–2755)

      Emanuela Lucci-Cordisco, Salvatore Scommegna, Daniela Orteschi, Daniela Galeazzi, Giovanni Neri and Brunetto Boscherini

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35579

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  12. Conference Report

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    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
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    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
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      Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011 (pages 2763–2766)

      Heather J. Howard, Arthur Beaudet, Vera Gil-da-Silva Lopes, Mike Lyne, Graeme Suthers, Peter Van den Akker, Katarzyna Wertheim-Tysarowska, Patrick Willems and Finlay Macrae

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35392

  13. Research Articles

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    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
    1. 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster (pages 2767–2774)

      Manjunath Nimmakayalu, Nathan Noble, V. Kim Horton, Marcia Willing, Sara Copeland, Val Sheffield, Peter L. Nagy, Tom Wassink, Shivanand Patil and Oleg A. Shchelochkov

      Article first published online: 28 SEP 2012 | DOI: 10.1002/ajmg.a.35362

    2. Apolipoprotein E genotype and neurological disease onset in Niemann–Pick disease, type C1 (pages 2775–2780)

      Rao Fu, Nicole M. Yanjanin, Matthew J. Elrick, Christopher Ware, Andrew P. Lieberman and Forbes D. Porter

      Article first published online: 28 SEP 2012 | DOI: 10.1002/ajmg.a.35395

    3. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients (pages 2781–2787)

      Sean B. Herman, Tingwei Guo, Donna M. McDonald McGinn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva W.C. Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, M. Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly S. Emanuel, Bernice E. Morrow and and the International Chromosome 22q11.2 Consortium

      Article first published online: 3 OCT 2012 | DOI: 10.1002/ajmg.a.35512

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      A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) (pages 2788–2796)

      Ghada M.H. Abdel-Salam, Ashleigh E. Schaffer, Maha S. Zaki, Tracy Dixon-Salazar, Inas S. Mostafa, Hanan H. Afifi and Joseph G. Gleeson

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35583

    5. Central nervous system malformations and deformations in FGFR2-related craniosynostosis (pages 2797–2806)

      Roman Hossein Khonsari, Anne-Lise Delezoide, Wenfei Kang, Jean M. Hébert, Bettina Bessières, Valérie Bodiguel, Catherine Collet, Laurence Legeai-Mallet, Paul T. Sharpe and Catherine Fallet-Bianco

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35598

    6. Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10 (pages 2815–2819)

      Thomas Eggermann, Matthias Begemann, Magdalena Gogiel, María Palomares, Elena Vallespín, Luis Fernández, Rosario Cazorla, Sabrina Spengler and Sixto García-Miñaúr

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35612

    7. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia (pages 2820–2828)

      Ashwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, Tatjana Bierhals, Madhusudan R. Nandineni, Sumita Danda, Debashish Danda, Hitesh Shah, Sandeep Vijayan, Kalpana Gowrishankar, Shubha R Phadke, Abdul Mueed Bidchol, Anand Prahalad Rao, Sheela Nampoothiri, Kerstin Kutsche and K.M. Girisha

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35620

    8. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations (pages 2829–2834)

      Takeo Nishida, Marie E. Faughnan, Timo Krings, Murali Chakinala, James R. Gossage, William L. Young, Helen Kim, Tony Pourmohamad, Katharine J. Henderson, Stacy D. Schrum, Melissa James, Nancy Quinnine, Aditya Bharatha, Karel G. terBrugge and Robert I. White Jr

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35622

    9. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases (pages 2835–2842)

      Amy L. Barczykowski, Alexander H. Foss, Patricia K. Duffner, Li Yan and Randy L. Carter

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35624

    10. Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect (pages 2843–2848)

      Priyanka Ghosh, Pranami Bhaumik, Sujoy Ghosh, Umut Ozbek, Eleanor Feingold, Cheryl Maslen, Biswanath Sarkar, Vishmadeb Pramanik, Priyanka Biswas, Biswajit Bandyopadhyay and Subrata Kumar Dey

      Article first published online: 14 SEP 2012 | DOI: 10.1002/ajmg.a.35626

    11. A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome (pages 2849–2856)

      Phi Yen Vu, Jérôme Toutain, David Cappellen, Marie-Ange Delrue, Hussein Daoud, Azza Abd El Moneim, Pascal Barat, Orianne Montaubin, Françoise Bonnet, Zong Qi Dai, Christophe Philippe, Cong Toai Tran, Caroline Rooryck, Benoît Arveiler, Robert Saura, Sylvain Briault, Didier Lacombe and Laurence Taine

      Article first published online: 3 OCT 2012 | DOI: 10.1002/ajmg.a.35694

  14. Clinical Reports

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    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
    1. Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome (pages 2857–2862)

      N. Di Donato, A. Riess, K. Hackmann, A. Rump, A. Huebner, M. von der Hagen, G. Hahn, E. Schrock and S. Tinschert

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35481

    2. Risk for ingestion of toxic substances in children with Prader–Willi syndrome (pages 2866–2869)

      Shawn E. McCandless, Karen Potter Powell and Ulrika Sandberg

      Article first published online: 14 SEP 2012 | DOI: 10.1002/ajmg.a.34315

    3. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients (pages 2870–2880)

      Martino Ruggieri, Pietro Milone, Piero Pavone, Raffaele Falsaperla, Agata Polizzi, Rosario Caltabiano, Marco Fichera, Anna Lia Gabriele, Angela Distefano, Rocco De Pasquale, Vincenzo Salpietro, Giuseppe Micali and Lorenzo Pavone

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35221

    4. An inherited LMNA gene mutation in atypical Progeria syndrome (pages 2881–2887)

      Yassamine Doubaj, Annachiara De Sandre-Giovannoli, Esteves-Vieira Vera, Claire Laure Navarro, Siham Chafai Elalaoui, Mariam Tajir, Nicolas Lévy and Abdelaziz Sefiani

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35557

    5. Unstable transmission of a familial complex chromosome rearrangement (pages 2888–2893)

      Ellen van Binsbergen, Ron Hochstenbach, Jacques Giltay and Marielle Swinkels

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35580

    6. Grange syndrome: An identifiable cause of stroke in young adults (pages 2894–2898)

      Irene Volonghi, Michele Frigerio, Dikran Mardighian, Roberto Gasparotti, Elisabetta Del Zotto, Alessia Giossi, Paolo Costa, Loris Poli, Guido Jeannin, Gina A. Gregorini, Alessandro Padovani and Alessandro Pezzini

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35593

    7. Atypical findings in three patients with Pai syndrome and literature review (pages 2899–2904)

      Damien Lederer, Brian Wilson, Pierre Lefesvre, Vincent Vander Poorten, Nigel Kirkham, Dipayan Mitra, Christine Verellen-Dumoulin and Koenraad Devriendt

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35592

    8. Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia (pages 2905–2910)

      Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Érika Lopes Freitas, Carla Rosenberg, Cláudia Vianna Maurer-Morelli, Iscia Lopes-Cendes, Agnes Cristina Fett-Conte and Vera Lúcia Gil-da-Silva-Lopes

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35603

    9. WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype (pages 2917–2924)

      Carlos A. Bacino, Shweta U. Dhar, Nicola Brunetti-Pierri, Brendan Lee and Penelope E. Bonnen

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35608

    10. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction (pages 2925–2930)

      Fadel Alyaqoub, Robert E. Pyatt, Andrea Bailes, Amanda Brock, Carol Deeg, Aimee McKinney, Caroline Astbury, Shalini Reshmi, Kate P. Shane, Devon Lamb Thrush, Annemarie Sommer and Julie M. Gastier-Foster

      Article first published online: 14 SEP 2012 | DOI: 10.1002/ajmg.a.35610

    11. Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4 (pages 2931–2934)

      Judith M.A. Verhagen, Jan G. Huijmans, Monique Williams, Rutger L.J. van Ruyven, Arthur A.B. Bergen, Cokkie H. Wouters and Alice S. Brooks

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35611

    12. Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2 (pages 2946–2952)

      Sébastien Chénier, Abdul Noor, Lucie Dupuis, Dimitri J Stavropoulos and Roberto Mendoza-Londono

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35619

    13. A new report of Cornelia de Lange syndrome associated with split hand and feet (pages 2953–2955)

      Chiara Barboni, Anna Cereda, Milena Mariani, Cristina Gervasini, Paola Ajmone, Andrea Biondi and Angelo Selicorni

      Article first published online: 18 SEP 2012 | DOI: 10.1002/ajmg.a.35623

    14. Sleep-disordered breathing in Beckwith–Wiedemann syndrome: Three patients (pages 2956–2958)

      Sujay Kansagra, O'Neill D'Cruz, Terry L. Noah and Bradley V. Vaughn

      Article first published online: 14 SEP 2012 | DOI: 10.1002/ajmg.a.35628

    15. Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz–Jeghers phenotype (pages 2959–2962)

      Sarah Scollon, Kirsty McWalter, Keith Abe, Jeremy King, Kevin Kimata and Thomas P. Slavin

      Article first published online: 14 SEP 2012 | DOI: 10.1002/ajmg.a.35629

  15. Research Letters

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    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
    1. Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes (pages 2963–2968)

      Luis Fernández, Julián Nevado, María L. De Torres, Elena Mansilla, Elena Vallespín, Sixto García-Miñaúr, Rebeca Palomo, Lucía Deirós, Marta Cabrera, Elia Dina Galo, Pablo Lapunzina and Alicia Delicado

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35595

    2. Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation (pages 2969–2971)

      Takahiro Yamada, Masaki Takagi, Gen Nishimura, Rina Akaishi, Itsuko Furuta, Mamoru Morikawa, Takashi Yamada, Kazutoshi Cho, Hideaki Sawai, Shiro Ikegawa, Tomonobu Hasegawa and Hisanori Minakami

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35602

    3. GPSM2 mutations in Chudley–McCullough syndrome (pages 2972–2973)

      Oscar Diaz-Horta, Asli Sirmaci, Dan Doherty, Walter Nance, Kathleen Arnos, Arti Pandya and Mustafa Tekin

      Article first published online: 14 SEP 2012 | DOI: 10.1002/ajmg.a.35636

  16. Correspondence

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    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
  17. Correspondences

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    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
  18. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comment
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. New Syndrome
    13. Conference Report
    14. Research Articles
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    18. Correspondences
    19. Correspondence
    1. The signature of craniofacial deformation in fibrodysplasia ossificans progressiva (pages 2977–2978)

      Daniel Rocha Carvalho, Luciano Farage and Carlos Eduardo Speck-Martins

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35617

    2. The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it? (pages 2979–2980)

      Peter Hammond, Michael Suttie, Raoul C. Hennekam, Judith Allanson, Eileen M. Shore and Frederick S. Kaplan

      Article first published online: 17 SEP 2012 | DOI: 10.1002/ajmg.a.35616

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